Fanconi Anemia

Common Name(s)

Fanconi Anemia

Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or X-linked recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Anemia" for support, advocacy or research.

Logo
Canadian Fanconi Anemia Research Fund

Fanconi Canada is a registered charity that funds research in Canada into an effective treatment and, ultimately, a cure for Fanconi anemia and serves as a support network for affected Canadian families.

Last Updated: 24 Nov 2009

View Details
Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

View Details
Fanconi Anemia Research Fund, Inc.

Our mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.

Last Updated: 29 Apr 2014

View Details
National Bone Marrow Transplant Link

The mission of the National Bone Marrow Transplant Link is to help patients, caregivers, and families cope with the social and emotional challenges of bone marrow/stem cell transplant from diagnosis through survivorship by providing vital information and personalized support services.

Last Updated: 20 Feb 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi Anemia" for support, advocacy or research.

Logo
Canadian Fanconi Anemia Research Fund

Fanconi Canada is a registered charity that funds research in Canada into an effective treatment and, ultimately, a cure for Fanconi anemia and serves as a support network for affected Canadian families.

http://www.fanconicanada.org/en/

Last Updated: 24 Nov 2009

View Details
Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details
Fanconi Anemia Research Fund, Inc.

Our mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.

http://www.fanconi.org

Last Updated: 29 Apr 2014

View Details
National Bone Marrow Transplant Link

The mission of the National Bone Marrow Transplant Link is to help patients, caregivers, and families cope with the social and emotional challenges of bone marrow/stem cell transplant from diagnosis through survivorship by providing vital information and personalized support services.

http://www.nbmtlink.org

Last Updated: 20 Feb 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fanconi Anemia" returned 481 free, full-text research articles on human participants. First 3 results:

The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription.
 

Author(s): Rebekka A Schwab, Jadwiga Nieminuszczy, Fenil Shah, Jamie Langton, David Lopez Martinez, Chih-Chao Liang, Martin A Cohn, Richard J Gibbons, Andrew J Deans, Wojciech Niedzwiedz

Journal: Mol. Cell. 2015 Nov;60(3):351-61.

 

DNA replication stress can cause chromosomal instability and tumor progression. One key pathway that counteracts replication stress and promotes faithful DNA replication consists of the Fanconi anemia (FA) proteins. However, how these proteins limit replication stress remains largely ...

Last Updated: 23 Nov 2015

Go To URL
The Fanconi Anemia DNA Repair Pathway Is Regulated by an Interaction between Ubiquitin and the E2-like Fold Domain of FANCL.
 

Author(s): Jennifer A Miles, Mark G Frost, Eilis Carroll, Michelle L Rowe, Mark J Howard, Ateesh Sidhu, Viduth K Chaugule, Arno F Alpi, Helen Walden

Journal: J. Biol. Chem.. 2015 Aug;290(34):20995-1006.

 

The Fanconi Anemia (FA) DNA repair pathway is essential for the recognition and repair of DNA interstrand crosslinks (ICL). Inefficient repair of these ICL can lead to leukemia and bone marrow failure. A critical step in the pathway is the monoubiquitination of FANCD2 by the RING ...

Last Updated: 22 Aug 2015

Go To URL
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
 

Author(s): Asuka Hira, Kenichi Yoshida, Koichi Sato, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Akira Shimamoto, Hidetoshi Tahara, Etsuro Ito, Seiji Kojima, Hitoshi Kurumizaka, Seishi Ogawa, Minoru Takata, Hiromasa Yabe, Miharu Yabe

Journal: Am. J. Hum. Genet.. 2015 Jun;96(6):1001-7.

 

Fanconi anemia (FA) is a rare genetic disorder characterized by genome instability, increased cancer susceptibility, progressive bone marrow failure (BMF), and various developmental abnormalities resulting from the defective FA pathway. FA is caused by mutations in genes that mediate ...

Last Updated: 6 Jun 2015

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fanconi Anemia" returned 50 free, full-text review articles on human participants. First 3 results:

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.
 

Author(s): Ponnumony John Solomon, Priya Margaret, Ramya Rajendran, Revathy Ramalingam, Godfred A Menezes, Alph S Shirley, Seung Jun Lee, Moon-Woo Seong, Sung Sup Park, Dodam Seol, Soo Hyun Seo

Journal:

 

Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized by congenital malformations, hematological problems and predisposition to malignancies. The genes that have been found to be mutated in FA patients are called FANC. To date 16 distinct ...

Last Updated: 20 May 2015

Go To URL
Crosstalk between translesion synthesis, Fanconi anemia network, and homologous recombination repair pathways in interstrand DNA crosslink repair and development of chemoresistance.
 

Author(s): Brittany Haynes, Nadia Saadat, Brian Myung, Malathy P V Shekhar

Journal: Mutat Res Rev Mutat Res. ;763():258-66.

 

Bifunctional alkylating and platinum based drugs are chemotherapeutic agents used to treat cancer. These agents induce DNA adducts via formation of intrastrand or interstrand (ICL) DNA crosslinks, and DNA lesions of the ICL type are particularly toxic as they block DNA replication ...

Last Updated: 21 Mar 2015

Go To URL
Targeted therapy for genetic cancer syndromes: Fanconi anemia, medullary thyroid cancer, tuberous sclerosis, and RASopathies.
 

Author(s): Rishi Agarwal, Sarah Liebe, Michelle L Turski, Smruti J Vidwans, Filip Janku, Ignacio Garrido-Laguna, Javier Munoz, Richard Schwab, Jordi Rodon, Razelle Kurzrock, Vivek Subbiah,

Journal: Discov Med. 2015 Feb;19(103):101-8.

 

With the advent of genomics-based treatment in recent years, the use of targeted therapies in the treatment of various malignancies has increased exponentially. Though much data is available regarding the efficacy of targeted therapies for common malignancies, genetic cancer syndromes ...

Last Updated: 1 Mar 2015

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Quercetin in Children With Fanconi Anemia; a Pilot Study
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 18 Nov 2015

Go to URL
Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
 

Status: Available

Condition Summary: Fanconi Anemia; Autosomal or Sex Linked Recessive Genetic Disease; Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.; Hematopoiesis Maintainance.

 

Last Updated: 21 Nov 2013

Go to URL
Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 21 Jan 2016

Go to URL